Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4770 | 14533;14534;14535 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| N2AB | 4453 | 13582;13583;13584 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| N2A | 3526 | 10801;10802;10803 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| N2B | 4407 | 13444;13445;13446 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| Novex-1 | 4532 | 13819;13820;13821 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| Novex-2 | 4599 | 14020;14021;14022 | chr2:178738145;178738144;178738143 | chr2:179602872;179602871;179602870 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs371552518  |
-0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-2.1.1 | 1.03546E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.26559E-04 | 0 |
| Y/C | rs371552518 |
-0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76382E-04 | 0 | 0 |
| Y/C | rs371552518 |
-0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-4.0.0 | 1.05344E-04 | None | None | None | None | N | None | 2.66866E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4155E-04 | 0 | 1.60113E-05 |
| Y/H | None | None | 1.0 | N | 0.792 | 0.689 | 0.566300147016 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/C | 0.9857 | likely_pathogenic | 0.9901 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.480599519 | None | None | N |
| Y/D | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.480599519 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.571 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| Y/F | 0.3873 | ambiguous | 0.432 | ambiguous | -0.685 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | N | 0.48037786 | None | None | N |
| Y/G | 0.9947 | likely_pathogenic | 0.9947 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| Y/H | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.438096053 | None | None | N |
| Y/I | 0.9218 | likely_pathogenic | 0.9401 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/L | 0.9126 | likely_pathogenic | 0.9352 | pathogenic | -0.714 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| Y/M | 0.9823 | likely_pathogenic | 0.9858 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/N | 0.9925 | likely_pathogenic | 0.9899 | pathogenic | -2.702 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.480599519 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/R | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/S | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -3.043 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.480599519 | None | None | N |
| Y/T | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/V | 0.8904 | likely_pathogenic | 0.9161 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/W | 0.9364 | likely_pathogenic | 0.9424 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.